{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T14:03:30Z","timestamp":1785161010722,"version":"3.55.0"},"reference-count":12,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2022,1,23]],"date-time":"2022-01-23T00:00:00Z","timestamp":1642896000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2022,1,23]],"date-time":"2022-01-23T00:00:00Z","timestamp":1642896000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurol Sci"],"published-print":{"date-parts":[[2022,4]]},"DOI":"10.1007\/s10072-021-05841-8","type":"journal-article","created":{"date-parts":[[2022,1,23]],"date-time":"2022-01-23T00:03:55Z","timestamp":1642896235000},"page":"2849-2852","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A case of spastic paraplegia type 11 mimicking a GM2-gangliosidosis"],"prefix":"10.1007","volume":"43","author":[{"given":"Diego","family":"Lopergolo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianna","family":"Berti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Mari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Bertini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Rufa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla","family":"Battisti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Sicurelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Renieri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Federico","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Konrad","family":"Sandhoff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4068-8714","authenticated-orcid":false,"given":"Alessandro","family":"Malandrini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,1,23]]},"reference":[{"issue":"3","key":"5841_CR1","doi-asserted-by":"publisher","first-page":"772","DOI":"10.1093\/brain\/awm293","volume":"131","author":"G Stevanin","year":"2008","unstructured":"Stevanin G, Azzedine H, Denora P et al (2008) Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Brain 131(3):772\u2013784. https:\/\/doi.org\/10.1093\/brain\/awm293","journal-title":"Brain"},{"issue":"18","key":"5841_CR2","doi-asserted-by":"publisher","first-page":"4859","DOI":"10.1093\/HMG\/DDU200","volume":"23","author":"F P\u00e9rez-Brangul\u00ed","year":"2014","unstructured":"P\u00e9rez-Brangul\u00ed F, Mishra HK, Prots I et al (2014) Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia. Hum Mol Genet 23(18):4859. https:\/\/doi.org\/10.1093\/HMG\/DDU200","journal-title":"Hum Mol Genet"},{"issue":"6","key":"5841_CR3","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1002\/ACN3.64","volume":"1","author":"B Renvois\u00e9","year":"2014","unstructured":"Renvois\u00e9 B, Chang J, Singh R et al (2014) Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11. Ann Clin Transl Neurol 1(6):379. https:\/\/doi.org\/10.1002\/ACN3.64","journal-title":"Ann Clin Transl Neurol"},{"key":"5841_CR4","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1016\/J.NBD.2017.02.007","volume":"102","author":"J Branchu","year":"2017","unstructured":"Branchu J, Boutry M, Sourd L et al (2017) Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration. Neurobiol Dis 102:21. https:\/\/doi.org\/10.1016\/J.NBD.2017.02.007","journal-title":"Neurobiol Dis"},{"issue":"6","key":"5841_CR5","doi-asserted-by":"publisher","first-page":"1723","DOI":"10.1093\/brain\/aww061","volume":"139","author":"PS Denora","year":"2016","unstructured":"Denora PS, Smets K, Zolfanelli F et al (2016) Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions. Brain 139(6):1723\u20131734. https:\/\/doi.org\/10.1093\/brain\/aww061","journal-title":"Brain"},{"issue":"13","key":"5841_CR6","doi-asserted-by":"publisher","first-page":"3813","DOI":"10.1016\/J.CELREP.2018.05.098","volume":"23","author":"M Boutry","year":"2018","unstructured":"Boutry M, Branchu J, Lustremant C et al (2018) Inhibition of lysosome membrane recycling causes accumulation of gangliosides that contribute to neurodegeneration. Cell Rep 23(13):3813. https:\/\/doi.org\/10.1016\/J.CELREP.2018.05.098","journal-title":"Cell Rep"},{"key":"5841_CR7","doi-asserted-by":"publisher","unstructured":"Breiden B, Sandhoff K (2020) Mechanism of secondary ganglioside and lipid accumulation in lysosomal disease. Int J Mol Sci 21(7). https:\/\/doi.org\/10.3390\/IJMS21072566","DOI":"10.3390\/IJMS21072566"},{"issue":"3","key":"5841_CR8","doi-asserted-by":"publisher","first-page":"366","DOI":"10.1038\/ng1980","volume":"39","author":"G Stevanin","year":"2007","unstructured":"Stevanin G, Santorelli FM, Azzedine H et al (2007) Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet 39(3):366\u2013372. https:\/\/doi.org\/10.1038\/ng1980","journal-title":"Nat Genet"},{"issue":"9","key":"5841_CR9","doi-asserted-by":"publisher","first-page":"1825","DOI":"10.1007\/s00415-014-7443-3","volume":"261","author":"MP Giannoccaro","year":"2014","unstructured":"Giannoccaro MP, Liguori R, Arnoldi A, Donadio V, Avoni P, Bassi MT (2014) Atypical late-onset hereditary spastic paraplegia with thin corpus callosum due to novel compound heterozygous mutations in the SPG11 gene. J Neurol 261(9):1825\u20131827. https:\/\/doi.org\/10.1007\/s00415-014-7443-3","journal-title":"J Neurol"},{"issue":"4","key":"5841_CR10","doi-asserted-by":"publisher","first-page":"609","DOI":"10.1002\/ana.25689","volume":"87","author":"M Masingue","year":"2020","unstructured":"Masingue M, Dufour L, Lenglet T et al (2020) Natural history of adult patients with GM2 gangliosidosis. Ann Neurol 87(4):609\u2013617. https:\/\/doi.org\/10.1002\/ana.25689","journal-title":"Ann Neurol"},{"issue":"6","key":"5841_CR11","doi-asserted-by":"publisher","first-page":"459","DOI":"10.1016\/j.pediatrneurol.2010.02.007","volume":"42","author":"A Jain","year":"2010","unstructured":"Jain A, Kohli A, Sachan D (2010) Infantile Sandhoff\u2019s disease with peripheral neuropathy. Pediatr Neurol 42(6):459\u2013461. https:\/\/doi.org\/10.1016\/j.pediatrneurol.2010.02.007","journal-title":"Pediatr Neurol"},{"issue":"11","key":"5841_CR12","doi-asserted-by":"publisher","first-page":"1866","DOI":"10.1016\/j.bbadis.2013.01.019","volume":"1832","author":"K Kollmann","year":"2013","unstructured":"Kollmann K, Uusi-Rauva K, Scifo E, Tyynel\u00e4 J, Jalanko A, Braulke T (2013) Cell biology and function of neuronal ceroid lipofuscinosis-related proteins. Biochim Biophys Acta Mol Basis Dis 1832(11):1866\u20131881. https:\/\/doi.org\/10.1016\/j.bbadis.2013.01.019","journal-title":"Biochim Biophys Acta Mol Basis Dis"}],"container-title":["Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-021-05841-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10072-021-05841-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-021-05841-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,3,12]],"date-time":"2022-03-12T07:15:24Z","timestamp":1647069324000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10072-021-05841-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1,23]]},"references-count":12,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2022,4]]}},"alternative-id":["5841"],"URL":"https:\/\/doi.org\/10.1007\/s10072-021-05841-8","relation":{},"ISSN":["1590-1874","1590-3478"],"issn-type":[{"value":"1590-1874","type":"print"},{"value":"1590-3478","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,1,23]]},"assertion":[{"value":"17 August 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 December 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 January 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The study was approved by the Local Ethical Committees in agreement with the Declaration of Helsinki.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"Informed consent for molecular genetic analysis and clinical procedures was obtained from the patient or a patient\u2019s legal representative.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}